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M Adinolfi

Publications and source records attributed to M Adinolfi.

At least 19 recordsLinked to original sources
PubMed1992

Carrier detection of deletions in female relatives of X-linked disorders by non-isotopic in situ hybridisation.

Recent studies suggest that a non-isotopic in situ hybridisation (NISH) approach can be successfully employed to investigate the carrier status of female relatives in families of selected patients with Duchenne muscular dystrophy (DMD) or Hunter syndrome, whose diseases are due to a specific X chromosome deletion. Whilst the majority of metaphase spreads from normal females show specific hybridisation signals on both X chromosomes when tested with either dystrophin or Hunter gene-derived probes, only one X chromosome in each metaphase spread will show the relevant hybridisation complex in female carriers of deletions involving the dystrophin or Hunter gene. Thus, the NISH method can be a valuable diagnostic tool for the detection of the carrier status of female relatives of patients with X chromosome deletions.

Chromosome Deletion↗
PubMed1992

The treatment of chronic extremity pain in failed lumbar surgery. The role of lumbar sympathectomy.

Persistent lower extremity pain after unsuccessful lumbar surgery continues to be a disabling condition. The results of deafferentation procedures for radiculopathy have been disappointing. Hence, the prospect of isolating a potentially reversible component of extremity pain is quite attractive. Given the frequency with which vasomotor complaints occur in this setting, the occurrence of autonomic dysfunction seems quite plausible. Autonomic dysfunction was investigated in 17 patients who had undergone previous lumbar surgery and had chronic limb pain. Patients underwent a preblockade thermogram, sympathetic blockade, and postblockade thermograms. All patients reported substantial relief after blockade, and all underwent retroperitoneal sympathectomy. All patients were followed for at least 2 years. The clinical results were disappointing, with only one patient reporting substantial relief. Although the results of thermography initially seemed to correlate with clinical outcome, further follow-up failed to yield any correlation. Additionally, no specific combination of response to blockade or thermogram was predictive of the clinical success after sympathectomy. Now, lumbar sympathectomy is not recommended in the setting of chronic radiculopathy and persistent extremity pain.

Female↗
PubMed1992

Carrier detection of deletions of the Hunter gene by in situ hybridization.

Deficiency of the lysosomal enzyme alpha-iduronate sulphate sulphatase (IDS) causes the clinical manifestations of Hunter syndrome, an X-linked condition. In about 30% of male patients, the disease is due to a major deletion. Using a non-isotopic in situ hybridization (NISH) method, and a yeast artificial chromosome (YAC) probe, the Hunter gene was mapped to the terminal region of the human X chromosome, close to the Xq28 band. The NISH procedure was then applied to investigate the carrier status of female relatives of a Hunter patient known to have a deletion of the IDS gene. Unequivocal evidence that two female relatives were carriers of the deletion was obtained, demonstrating that the NISH method is a valuable diagnostic tool in genetic counselling of families with Hunter patients.

Chromosome Deletion↗
PubMed1990

Alpha-fetoprotein levels in different strains of mice during development.

The levels of alpha-fetoprotein (AFP) were measured at birth and at 7 days of age in plasma from Q, C3H/He-mg/Crc, BALB/c/Crc, A/Crc, CBA/Ca/Crc and C57BL/Mcl mice, and in adult blood samples and amniotic fluid at 14 days' gestation from Q, C3H and BALB/c mice. The AFP levels in amniotic fluid and neonatal plasma were significantly higher in BALB/c mice than in the other strains tested, but by postnatal day 7, C57BL and C3H mice had the highest plasma levels. It seems therefore that the genetic mechanisms controlling the synthesis of AFP prenatally may be distinct from those concerned with its reduction after birth. At 6 weeks of age the level in C3H mice was somewhat higher than in BALB/c, and more than double that in Q mice. An attempt to increase AFP levels in response to galactosamine-induced liver damage was successful only in Q adult mice. When amniotic fluids and day 0 plasma from several strains of mice were tested by polyacrylamide gel electrophoresis, no differences in AFP mobility were detected. Preliminary studies were also carried out to see if the administration of sodium butyrate, claimed to delay the timing of the fetal to adult haemoglobin switch in some mammalian species, could also affect the rate of synthesis of AFP during fetal life.

Amniotic Fluid↗
PubMed1990

Expression of complement receptors CR1 and CR3 in patients with juvenile periodontitis.

The expression of two complement receptors, CR1 and CR3, was investigated in a group of 11 patients with localized juvenile periodontitis (LJP) before and after stimulation of their peripheral blood neutrophils and monocytes with a chemotactic factor. A total deficiency of CR1 or CR3 was not observed in any patient. Abnormally high or low values were seen in some individuals; however, tests repeated a few months later suggested that the abnormal expression of CR1 and CR3 were not causing the disease, but were probably the result of the inflammation and infection usually associated with untreated juvenile periodontitis.

Adolescent↗
PubMed1979

Neural tube defects in curly-tail mice. I. Incidence, expression and similarity to the human condition.

The incidence of neurovertebral defects in mutant mice of the curly-tail strain was investigated and found to be similar to that observed in the same mice twenty-five years ago. The results of breeding experiments support the hypothesis of Grüneberg that the defects in these mice are probably caused by a recessive gene, the expression of which is markedly affected by the genetic background. Selection against the curly-tail phenotype for six generations did not affect the incidence of abnormalities. A marked excess of females was found among exencephalic mice, as among humans with neural tube defects. Similarly, polyhydramnios, hydrocephaly, high levels of amniotic fluid alphafoetoprotein and distinctive, rapidly adhering cells in the amniotic fluid also occurred in these mice, as in humans. The curly-tail mice thus provide a useful model for the investigation of neural tube defects in man.

Amniotic Fluid↗
PubMed1979

Neural tube defects in curly-tail mice. II. Effect of maternal administration of vitamin A.

Vitamin A, a known teratogen of the central nervous system, was administered in various doses, at the time of active neural tube closure, to pregnant curly-tail mice which have a genetic predisposition to neural tube defects (n.t.d.), and to A Strong mice, which are not so predisposed. The curly-tail mice showed an enhanced susceptibility to the teratogenic effect of vitamin A given on day 8 of gestation, demonstrating a clear gene-environment interaction. There was a differential response by the two sexes. Females seemed to be more affected by the vitamin A than males. When vitamin A was administered on day 9, instead of day 8, of gestation, the incidence of n.t.d. decreased rather than increased. Furthermore, the number of mice affected by n.t.d. was markedly lower even than that found spontaneously in untreated curly-tail mice.

Animals↗
PubMed1978

X chromosome complement and serum levels of IgM in man and mouse.

The levels of IgM were measured in sera from mice with different chromosome complements, including 39,XO mice and phenotypically male mice bearing the sex-reversed gene (Sxr) (XX,Sxr/+ and XY,Sxr/+). The mean values of IgM were found to be higher in normal female mice than in the males belonging to two different strains. This is in agreement with the higher mean serum levels of IgM observed in two groups of sera from normal human females and males. However, while we could confirm that the mean level of IgM was lower in 45,XO women than in normal females and comparable to the mean value of normal males, the same effect was not seen in 39,XO mice. In fact, the mean concentration of serum IgM in 39,XO mice was similar to that in normal females. Furthermore, it was observed that the mean values of serum IgM in the two groups of sex-reversed male mice (XX,Sxr/+ and XY,Sxr/+) were also not statistically different from those in normal males. Thus the role that the number of X chromosomes plays in the control of the serum levels of IgM is different in man and the mouse, in agreement with the observed different phenotypic manifestations, and in particular with the hormonal situations existing in X chromosome abnormalities in these two species.

Animals↗